STAT1 deficiency

The clinical phenotype of patients with STAT1 deficiency is similar to that of patients with partial IFNgR deficiency. The opportunistic infections constitute the hallmark of inherited IFNγ1-receptor deficiency. Other features of immune dysregulation are asthma, atopy, glomerulonephritis, vasculitis and positive rheumatoid factor. The clinical phenotype of patients with partial IFNgR deficiency is generally mild like that in IL-12R deficiency. One patient with partial recessive IFNgR1 deficiency presented with clinical BCG and Salmonella enteridis infections and the other patient , not vaccinated, had symptomatic tuberculosis. A pathological feature characteristic for IFNγ1-receptor deficiency is the failure to form mature granulomas in response to Mycobacterium.

Diagnostic laboratories



Therapeutic options

  • Antibiotic therapy based on the susceptibilities of the mycobacterial species. Antimycobacterial therapy may have to be continued for extended periods and suplementary measures like drainage of the pus, attention to nutrition and growth can also be requiered. For those who not respond well to antibiotic treatment , additional IFNg therapy is effective.